ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)

gnomAD frequency: 0.00001  dbSNP: rs779162871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227140 SCV000283556 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 968 of the FANCA protein (p.Ser968Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs779162871, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000673348 SCV000798537 uncertain significance Fanconi anemia complementation group A 2018-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000227140 SCV002092573 uncertain significance Fanconi anemia 2020-12-10 no assertion criteria provided clinical testing

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